Rare human knockouts. Recessive disorders arise when both copies of a causative gene are affected by mutations. These diseases are thought to be a very rare occurrence, but the cumulative impact of these conditions is not known. Population genome sequencing offers the possibility to assess the spectrum and distribution of potentially causative mutations in large groups of individuals. In a recent publication from deCODE published in Nature Genetics, the authors examine the population spectrum of rare human knockouts using the unique genetic data and population structure of the Icelanders. Here is the story about potential candidate genes identified by population genetics. Continue reading
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The age of mega-genomics, type 2 diabetes, and protective variants in SLC30A8
Sequence first. There are larger genetic studies but not too many. In a recent study in Nature Genetics, roughly 150,000 individuals were genotyped to assess the importance of rare, disruptive variants in SLC30A8 in type 2 diabetes. This genomic tour de force was made possible by available and curated databases that could be tapped to extract the necessary genetic information. Also, this study highlights some of the surprises that we can expect by mining the human genome for disease-related information. Rare, disruptive variants in SLC30A8 protect against type 2 diabetes. Let’s review why these rare, protective genetic factors might be particularly important for biomedical research and what kind of studies we need to identify them. Continue reading
